A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2088



Internal ID15541371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105228875..105231459hg38UCSC Ensembl
Outerchr14:105695212..105697796hg19UCSC Ensembl
Outerchr14:104766257..104768841hg18UCSC Ensembl
Outerchr14:104766257..104768841hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3811605
hg1911605
hg1811605
hg1711605
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1439
Supporting Variants
SamplesNA18555
Known GenesBRF1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv2088
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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